INFUNDIBULOPELVIC STENOSIS, MULTICYSTIC KIDNEY, AND CALYECTASIS IN A KINDRED - CLINICAL OBSERVATIONS AND GENETIC-ANALYSIS

Congenital obstructive anomalies of the urinary tract usually occur sp oradically. We describe inheritance in a three-generation kindred of a spectrum of kidney anomalies consistent with an autosomal-dominant mo de of transmission, with incomplete penetrance, calyectasis (maternal grandmother), infundibulopelvic stenosis (uncle), and multicystic kidn ey (male proband, age 4 years). The proband's mother, father and half sister had normal renal imaging studies. Inheritance of informative po lymorphic markers (3'-HVR, GGG1, GGG9, SM-7, KG8, and CW3) mapping clo se to the adult polycystic kidney disease type 1 (PKD-1) and tuberous sclerosis (TSC-S) loci on chromosome 16p was evaluated by Southern blo t studies and by PCR-based, fluorescent genotyping for linkage to phen otype. The 3 affected individuals, as well as the unaffected mother (o bligate carrier) and unaffected half-sister, inherit a common chromoso me haplotype linked to the PKD1 locus. Our findings support the hypoth esis that these anomalies may be part of a spectrum of obstructive ren al dysplasia which are inherited as a simple Mendelian trait exhibitin g an autosomal-dominant mode of transmission with variable expression and incomplete penetrance. (C) 1995 Wiley-Liss, Inc.